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Benign Heme Review > Deck 1 > Flashcards

Deck 1 Flashcards

1
Q

What is often seen with respect to reticulocytes in DHTR in Sickle Cell Disease?

A

Reticulocytopenia

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2
Q

What are some common RBC antigens that lead to DHTR?

A

Kidd (Jk) and Rh

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3
Q

What is the goal HbF in someone started on hydroxyurea for SCD?

A

> 20%

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4
Q

Why are Sickle Cell patients immunocompromised?

A

Compromised function of the reticuloendothelial system and spleen + autoinfarction of the spleen

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5
Q

What may be used in severe cases of DHTR/Hyperhemolysis in Sickle Cell?

A

Steroids or IVIG

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6
Q

Though Staph is the MC cause of osteomyelitis, what proportion of osteomyelitis does it account for in Sickle Cell patients?

A

About 25%—bc mostly Salmonella

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7
Q

What is the most common anti-RBC antibody after ABO and Rh?

A

Anti-K (Kell)

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8
Q

What antigen on RBCs serves as the receptor for Plasmodium vivax and Plasmodium knowlesi?

A

Duffy antigen

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9
Q

When doing an exchange transfusion, the recommendation is to keep the Hgb no higher than ____. What is the HbS goal?

A

No higher than 10 g/dL; <30%

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10
Q

What is the idea behind IVIG (400 mg/kg) x5 days and/or steroids in patients with hyperhemolysis?

A

IVIG blocks adhesion of sickle cells to MO; steroids suppress MO

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11
Q

What is the normal methemoglobin level in a person with hemoglobin M disease?

A

15-30%

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12
Q

How would a reticulocyte count help in a person with hemolysis due to B12 deficiency?

A

It would be low as opposed to elevated in many causes of hemolysis

May also be low in Aplastic Anemia

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13
Q

What blood group antigen does the Parvovirus bind to on RBC precursors when it causes PRCA?

A

P antigen

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14
Q

What pregnancy category is iron dextran?

A

C

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15
Q

What iron formulation has a category B designation to administer to pregnant patients?

A

Iron Sucrose

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16
Q

In patients who develop ACS with SCD, what medication should be given to prevent future episodes?

A

Hydroxyurea (if not already on)

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17
Q

After a stroke in SCD, what percent of patients will recur without chronic transfusion? What about those getting chronic transfusion?

A

60% if do nothing; 20% if chronic transfuse to <30% Hgb S; 40% absolute risk reduction

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18
Q

What gene is mutated in Schwachman Diamond?

A

SBDS—increased cardiotoxicity to cyclophosphamide containing conditioning regimens

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19
Q

Prior to universal vaccination for S pneumoniae how much more likely were children with SCD to get it?

A

400x

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20
Q

What kind of gel is needed to differentiate HbA2 from HbC?

A

Citric Agar (they migrate together on normal agar)

HbE migrates with HbA2 on both

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21
Q

What is the normal inheritance pattern for pyruvate kinase deficiency? Gene?

A

Autosomal Recessive; PKLR

See reticulocytosis >50% after splenectomy

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22
Q

What drug is FDA approved for pyruvate kinase deficiency?

A

Mitapivat

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23
Q

What happens when a person with SCD and splenic sequestration gets a prbc transfusion? What should be done down the line?

A

It will regress—after acute episode, need to do splenectomy

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24
Q

In what year was hydrea approved by FDA for Sickle Cell?

A

1998

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25
Q

2nd MC hemoglobinopathy after homozygous SS disease?

A

Hb SC dz

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26
Q

What is the MOA of mitapivat?

A

Pyruvate Kinase Activator

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27
Q

Physiologic function of the Kidd antigen (Jk)?

A

Urea Transporter

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28
Q

Approximately what percentage of autoimmune hemolytic anemias are Coombs negative?

A

10%

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29
Q

Usual treatment for warm AIHA?

A

Steroids generally with rituximab 375 mg/m2 weekly x4

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30
Q

What infections may cause Cold Agglutinin Disease?

A

Mycoplasma and EBV

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31
Q

What is the most common antigen implicated in pathogenesis of cold agglutinin disease?

A

I or i

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32
Q

A real cold agglutinin titer should be more than _____

A

> 1:64

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33
Q

What drug is used in both CAD and WAIHA?

A

RITUXIMAB.

Rituximab + Prednisone WAIHA; Rituximab + Bendamustine CAD

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34
Q

What treatments often used in WAIHA are not helpful in CAD?

A

Steroids and splenectomy; upfront WAIHA pred + rituximab—splenectomy later; CAD is rituximab + Bendamustine (unless infectious then tx underlying cause +/- rituximab)

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35
Q

Steroid regimen for WAIHA?

A

1-2 mg/kg for 3 weeks then slow taper probably with rituximab weekly x4

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36
Q

What is the FDA approved indication for sutimlimab in CAD?

A

To decrease red cell transfusion needs; can be for sx mgmt in ppl who don’t want Rituximab

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37
Q

What disease has a cold reacting IgG?

A

Paroxysmal Cold Hemoglobinuria (Donath Landsteiner Hemolysin)

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38
Q

What condition is associated with lack of Kell antigen expression?

A

McCleod Phenotype —often with acanthocytosis

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39
Q

When would you give ascorbic acid (vitamin C) to a person with methemoglobinemia?

A

If they have concomitant G6PD def

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40
Q

What is the target of sutimlimab?

A

Complement C1s (C1s is an activator for the pathway)

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41
Q

Patients with Hereditary Spherocytosis and moderate to severe hemolysis should receive what medication?

A

Folic acid 1 mg po daily

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42
Q

Hereditary Pyropoikilocytosis is a severe form of what

A

Hereditary Elliptocytosis

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43
Q

This X-linked disease leads to lack of Kell antigen and acanthocytosis

A

McLeod Phenotype

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44
Q

Inheritance pattern of G6PD def and Phosphoglycerate Kinase deficiency?

A

X-linked Recessive

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45
Q

Lead poisoning inhibits this enzyme which can lead to sideroblastic anemia

A

Pyramidine 5 Nucleotidase

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46
Q

Abbreviation for Kidd antigen? Kell?

A

Jk—Kidd; K—Kell

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47
Q

In a basic sense—what is thalassemia intermedia?

A

Nontransfusion dependent thalassemia

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48
Q

What inherited disease presents with normal-high B12 but high MMA and homocysteine and clinical s/s of B12 deficiency?

A

Transcobalamin II deficiency

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49
Q

What is the most common cause of PRCA in childhood?

A

Transient Erythroblastopenia of childhood but need to consider Diamond Blackfan Anemia

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50
Q

What is Cooleys anemia?

A

Beta thalassemia major (absent beta chains: B0/B0)

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51
Q

When to do RBC exchange for babesiosis?

A

If parasite count is >10%

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52
Q

3 options for FVIII inhibitor bleeding mgmt?

A

FEIBA, novoseven (rVIIa), and porcine FVIII (obizur)

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53
Q

What can you give Glanzmann refractory to platelets?

A

Activated Factor VIIa

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54
Q

Recommended VWF level for epidural anesthesia

A

> 50 iu/dL

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55
Q

MC inherited bleeding disorder?

A

Von Willebrand Disease—70% is type I

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56
Q

Which type of von willebrand disease does the von willebrand propeptide aid in diagnosis?

A

Type 1C Vicenza (but now should use DDAVP challenge 1 and 4 hours after)

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57
Q

Reversal agent for Xa inhibitors

A

Andexanet alfa

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58
Q

Half life of LMWH vs Fondaparinux

A

4 hr vs 18 hr

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59
Q

Protein S is a cofactor for ____

A

Protein C

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60
Q

Hereditary deficiency of this clotting factor is associated with poor wound healing and recurrent miscarriages

A

Factor XIII

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61
Q

Product for factor V deficiency? Goal level?

A

FFP >20%

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62
Q

What noninferiority study evaluated 20 vs 10 of rivaroxaban in pts who had completed 6 or 12 months AC?

A

EINSTEIN-CHOICE ok to do 10

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63
Q

VEXAS syndrome involves what gene?

A

UBA1

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64
Q

In addition to VWF, what clotting factor may become deficient in MPNs and why?

A

Factor V; due to high platelet/megakaryocyte mass and binding up of the Factor V (alpha granules have factor V)

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65
Q

Test for factor XIII def?

A

Clot lysis test in 5M Urea

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66
Q

What doac has the least renal excretion?

A

Apixaban (ie best option for ckd pts)

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67
Q

History of recurrent epistaxis and red telangiectasias on tongue indicate ______

A

Hereditary Hemorrhagic Telangiectasia

Ie Osler-Weber-Rendu

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68
Q

What genes may be tested for in Osler Weber Rendu?

A

ACVRL1, SMAD4, and ENG
ie Hereditary Hemorrhagic Telangiectasia

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69
Q

Factor levels for mild, moderate, and severe hemophilia?

A

> 5-40%, 1-5%, <1%

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70
Q

Diagnostic criteria for any hemophilia involves a respective factor level <____%

A

40%

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71
Q

For hemophilia patients with severe bleeding factor activity level should be raised to >_____% at all times? Initial?

A

Should be 50% or more, initially raise to 100%

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72
Q

Which type of hemophilia may be treated with DDAVP?

A

Hemophilia A (bc FVIII in endothelium)

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73
Q

Perioperative management of a hemophilia pt?

A

Raise to 100% for surgery; don’t let it fall to <50% until wound healed

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74
Q

If doing prophylactic therapy for hemophilia A (not emacizumab) when should it be started? What is the goal level?

A

After first bleed; maintain >1%

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75
Q

Difference between plasma and serum?

A

Serum is plasma minus clotting factors

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76
Q

Do coagulation tests require plasma or serum?

A

Plasma. Serum does not contain the clotting factors

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77
Q

Which test (PT or aPTT) uses tissue factor? Contact activator?

A

Tissue factor- PT/INR; Contact Activator- PTT

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78
Q

Normal fibrinogen level?

A

200-400

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79
Q

What are some factor deficiencies that prolong the PTT that don’t cause bleeding?

A

XII (Hageman), prekallikrein, contact activation factors

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80
Q

Tissue factor pathway inhibitor (TFPI) blocks what factor?

A

Factor VIIa

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81
Q

General bleeding profile for factor XI deficiency (hemophilia C)?

A

Minimal bleeding, if any; may occur after surgery; only AD hemophilia, Askenazi

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82
Q

What are two major clinical considerations for a mixing study that does not correct?

A

Inhibitor or drug

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83
Q

What does Alice Ma say is the most important enzyme on the planet?

A

Thrombin

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84
Q

What is the TENET mnemonic for the PTT pathway?

A

Twelve, Eleven, Nine, Eight, Ten

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85
Q

Reprolongation of a mixing study is seen in which disorder?

A

Acquired Hemophilia

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86
Q

Lupus inhibitor corrects with the addition of ____

A

Phospholipids

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87
Q

Brand name of recombinant porcine B domain deleted FVIII?

A

Obizur

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88
Q

Per the EACH-2 registry what therapy is most likely to eradicate a factor inhibitor in acquired hemophilia?

A

Prednisone and cyclophosphamide vs pred alone

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89
Q

These are the three antiphospholipid assays

A

Lupus anticoagulant (DRVVT LA-PTT), anticardiolipin, anti-beta-2-glycoprotein

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90
Q

With respect to the lupus anticoagulant specifically, what are the two assays that can be used?

A

DRVVT and LA-PTT

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91
Q

What does the platelet count and hematocrit need to be to do a PFA-100?

A

> 100,000 plt and >30% (hgb > 10)

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92
Q

Acquired von Willebrand disease secondary to MGUS is likely to respond to____

A

IVIG

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93
Q

What disease may lead to a secondary type I von Willebrand disease?

A

Hypothyroidism (decreased synthesis with low T4 and T3)

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94
Q

What is seen on the mixing study for factor X def due to amyloidosis?

A

Correction as it is a true def not inhibitor

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95
Q

Acquired von Willebrand disease secondary to what will respond to IVIG?

A

Paraproteinemias ie MGUS, myeloma

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96
Q

In the rare situation that a lupus inhibitor is causing bleeding what is probably going on?

A

Acquired factor II deficiency

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97
Q

A direct thrombin inhibitor is inhibiting which factor by Roman numeral?

A

IIa as II is PROthrombin; IIa is thrombin

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98
Q

What is the primary clearance of unfractionated heparin?

A

Liver and RES- ie mainly by macrophages

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99
Q

What are the baseline risks of HIT in patients who are on UFH? LMWH? Risk Ratio?

A

3%; 0.2%; 15x

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100
Q

Which anticoagulant is primarily cleared by the reticuloendothelial system?

A

Unfractionated heparin

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101
Q

How is LMWH cleared? Heparin?

A

LMWH mostly renal; UFH- mostly liver RES

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102
Q

Bone health concern with long term use of LMWH or fondaparinux?

A

Osteoporosis

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103
Q

Lab monitoring for argatroban and bivalrudin?

A

aPTT 1.5-3x baseline

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104
Q

In the TRAPS trial how many events were on the rivaroxaban arm in triple positive? Warfarin?

A

19%, 3%

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105
Q

Renal clearance of rivaroxaban? Apixaban?

A

Rivaroxaban 66%; Apixaban 27%

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106
Q

DOAC most likely to cause dyspepsia?

A

Dabigatran due to tartaric acid it is packaged in

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107
Q

In general there is insufficient data for rivaroxaban and apixaban for weight >____ kg and BMI >____ kg/m2

A

120 kg, 40 kg/m2

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108
Q

What anti platelet drugs are PDE inhibitors?

A

Dipyridamole and cilostazol

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109
Q

What percentage of patients may develop acute profound thrombocytopenia to GpIIb/IIIa inhibitors

A

<20k in 0.3%

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110
Q

TTP vs aHUS: comment on the degree of thrombocytopenia, renal impairment, and neurological sx

A

Plt usually <30 in TTP and > 30 in aHUS; sCr often <2.26 TTP and >2 in aHUS; both may have neuro sx

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111
Q

ADAMTS-13 <____% confirms TTP

A

<10%

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112
Q

Mortality of untreated and treated TTP?

A

Untreated 90%, 10-15% with tx

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113
Q

What is the incidence of the full pentad in TTP in the age of plasma exchange?

A

5%

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114
Q

Ultra large VWF multimers are secreted by ____ normally cleaved by _____

A

Endothelial cells (Weibel-Palade bodies); ADAMTS-13

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115
Q

Why is there thrombocytopenia in TTP?

A

Ultra large VWF multimers bind up the platelets then RBC shear across = MAHA

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116
Q

Which anticoagulant is primarily cleared by macrophages of the RES?

A

Unfractionated heparin

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117
Q

Benefit of adding upfront rituximab to steroids in TTP?

A

Decreased relapse rate (10% vs 57%) scully blood 2011

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118
Q

What drug is a nanobody targets the A1 domain of VWF and inhibits the VWF-platelet interaction?

A

Caplacizumab (induces a 2M VWD state)

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119
Q

What are the major benefits of caplacizumab in TTP from the HERCULES trial?

A

Reduce time to platelet count recovery reduced composite of (TTP related death, recurrent TTP, thrombotic events)

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120
Q

Probable standard of care for TTP (4 things)?

A

PLEX Steroids, Rituximab, and Caplacizumab

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121
Q

What is the PLEX “dose” for TTP?

A

1-1.5x plasma volume daily until platelet count normal x2 days

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122
Q

Treatment of choice for TTP in clinical remission but with ADAMTS-13 <10%?

A

Rituximab 375 mg/m2 weekly x4

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123
Q

What is the idea of the two hit hypothesis for aHUS?

A

There are genetics for complement proteins that are loss of function for inhibitory complements or gain of function for activating ones; then a trigger like infxn l, surgery, etc

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124
Q

Most common gene mutated in persons at risk for aHUS?

A

CFH (Factor H) 20-30% of cases

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125
Q

What is the target of eculizumab?

A

Anti-C5 monoclonal ab

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126
Q

What is the dosing of eculizumab for aHUS?

A

900 mg weekly x4, 1200 week 5 then 1200 q2weeks

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127
Q

How often is ravulizumab dosed for aHUS?

A

q8 weeks

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128
Q

What is the relapse rate for aHUS if eculizumab DCd?

A

20-30% this is analogous to TFR in CML

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129
Q

What proportion of patients with aHUS harbor genetic mutations?

A

40-60%

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130
Q

What are the two terminal complement inhibitors for PNH/aHUS?

A

Eculizumab and Ravilizumab (C5 inhibitors)

Pegcetacoplan is C3 (not terminal complement)

Iptacopan is complement factor B

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131
Q

What is a NET with respect to neutrophils?

A

Neutrophil Extracellular Trap — basically fibers of DNA that are used to trap pathogens but can also trap RBC and plt = microthrombosis

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132
Q

Which histology of malignancy is most likely to cause MAHA?

A

Adenocarcinoma

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133
Q

What may be the first signs of TMA?

A

Worsening HTN and AKI

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134
Q

Why might a checkpoint inhibitor cause TTP?

A

Can trigger autoantibodies to ADAMTS-13 (similar to TA-TMA can get anti-complement factor H)

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135
Q

What is the best mgmt of VEGFi associated TMA?

A

DC drug + adequate hydration and BP control with ACE/ARB

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136
Q

Tx of TA-TMA and benefit with this therapy in 1 year OS compared to historic controls

A

Eculizumab; 66% vs 16% (4x increase OS); note narsoplimab also on the rise in this space

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137
Q

Peripheral smear findings for ITP?

A

Few normal to large platelets; no red or white cell abnormalities

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138
Q

What infections to check in all ITP pts?

A

HCV and HIV

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139
Q

Activation of FC gamma receptors depends on what molecule ?

A

Syk (Spleen Tyrosine Kinase); fostamatinib targets

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140
Q

What proportion of ITP is primary? Secondary? MC secondary?

A

80%, 20%, Lupus accounts for 5% of all, CLL 2%

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141
Q

Average time to response for ITP tx with steroids dex 40 x4?

A

3-4 days

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142
Q

Time to respond to IVIG for ITP?

A

24-48 hours

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143
Q

What are the black box warnings for IVIG?

A

Renal failure and thrombosis

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144
Q

What is the black box warning for WinRho

A

Fatal Intravascular Hemolysis

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145
Q

Is there a difference using prednisone vs high dose dexamethasone for ITP?

A

No

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146
Q

Longterm remission rates for relapsed/refractory ITP for 1) Splenectomy 2) Rituximab 3) TPO-RA

A

Splenectomy 60-70%, Rituximab as low as 20%, TPO-RA work 50% but no durable response after DC

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147
Q

When do you see a response in platelet count in ITP after splenectomy?

A

7 days

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148
Q

How common is gestational thrombocytopenia? How low does plt go? When?

A

10% of pregnancy, 70k; 2-3 trimester

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149
Q

MC cause of first trimester thrombocytopenia?

A

Pregnancy associated ITP

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150
Q

What is the incidence of neonatal thrombocytopenia in pregnancy associated ITP?

A

20% (1 in 5); 4% severe (1 in 25)

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151
Q

Can you use rituximab in pregnancy associated ITP?

A

No—contraindicated

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152
Q

Goal plt count for epidural anesthesia

A

75-100k

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153
Q

In what year was fostamatinib approved for chronic ITP? Dose? ORR?

A

2018, 100 bid, 43% ORR

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154
Q

Russel Viper Venom directly activates _____

A

Factor X

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155
Q

What type of pRBC should be used if transfusion needed for an ITP pt on WinRho who needs blood?

A

Rh (-) so as to not exacerbate ongoing hemolysis
(note: pt needs to have spleen)

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156
Q

What is the extrinsic tenase complex?

A

Tissue factor + FVIIa (TF:VIIa)

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157
Q

Where is the coagulation cascade occurring?

A

On the surface of activated platelets

158
Q

What is the intrinsic tenase complex?

A

FVIIIa:FIXa

159
Q

In addition to cleaving fibrinogen to fibrin, thrombin also activates what two other molecules?

A

FXIII and Thrombin Activatable Fibrinolysis Inhibitor (TAFI)

160
Q

Both hemophilia A or B will lead to inability to form what complex?

A

Intrinsic tenase (FVIIIa:FIXa)

161
Q

The genes for FVIII and FIX are on what chromosome?

A

X

162
Q

Incidence of hemophilia A? B?

A

1:5,000 and 1:30,000 so A is 6x more frequent

163
Q

What biological phenomenon in women accounts for the wide range of factor levels and clinical manifestations in women with hemophilia?

A

X inactivation as factors VIII and IX are on X chromosome

164
Q

This bleeding disorder is most likely to be conflated for Hemophilia A

A

Type 2N Von Willebrand Disease (but is AR; hemophilia A is X linked recessive)

165
Q

What was the first treatment for hemophilia (1940)? Then in 1955?

A

Whole blood (1940); FFP (1955)

166
Q

The two major paradigmatic types of hemophilia therapy are prophylactic and ______

A

On-demand

167
Q

This drug mimics FVIIIs role in the intrinsic tenase complex

A

Emacizumab by bringing IXa to X

168
Q

The extended half life hemophilia meds have one of what two chemical modifications?

A

Pegylation or Protein Fusion (Fc Fusion or Albumin)

169
Q

What is the long acting Fc-fused FVIII product? Fc-fused FIX product? Albumin fused FIX?

A

Fc fused VIII = Eloctate
Fc fused IX = Alprolix
Albumin fused IX = Idelvion

170
Q

What does AAV stand for in gene therapy?

A

Adeno-associated virus

171
Q

Explain the dosing for Etranacogene Dezaparvovec as 2x10^13 vg/kg

A

2 trillion viral/vector genome/ kg

172
Q

What is used “reactively” in AAV gene therapy?

A

Steroids to prevent harmful immune response to the AAV capsid (Adenovirus Associated Virus)

173
Q

For an inhibitor titer greater than 5 BU the term “high responding” is used, what does it mean?

A

The inhibitor titer rises in response to factor exposure

174
Q

This is the reciprocal of the dilution that leads to 50% clotting factor in test sample compared to control plasma in hemophilia inhibitors

A

Bethesda Unit

175
Q

This experimental drug targets mRNA of antithrombin to try to rebalance hemostasis in hemophilia

A

Fitusiran (siRNA that prevents mRNA of antithrombin from being translated)

176
Q

What drug inhibits TFPI (Tissue Factor Pathway Inhibitor)?

A

Concizumab trying to rebalance hemostasis in hemophilia

177
Q

What does concizumab do?

A

Blocks TFPI to rebalance hemostasis in hemophilia (normally TFPI inhibits FVIIa)

178
Q

MOA of fitusiran

A

siRNA that prevents formation of antithrombin to try to rebalance hemostasis in hemophilia

179
Q

In HIT the thrombocytopenia and thrombosis should occur _____ days after the immunizing event

A

5 days

180
Q

For rapid onset HIT there usually has been prior heparin exposure within the past ____ days

A

100

181
Q

Platelet activating antibodies in HIT often become undetectable within ____ days

A

100 days
They are transient no immune memory.

So rapid onset really only occurs within 100 days

182
Q

What is the median platelet nadir in HIT?

A

55-70k

183
Q

Difference in median platelet nadir for DITP vs HIT both of which occur 5 days after immunizing event

A

DITP <10k + bleeding; HIT around 55-70 + thrombosis

184
Q

The heparin-PF4 complex causes platelet activation by stimulating what receptor?

A

Platelet Fc-gamma receptor

185
Q

What is the general spectrum of types of thrombosis that occurs in HIT?

A

DVT 50%, PE 25%, and arterial 15%; venous:arterial 4:1

186
Q

Two major tests for HIT?

A

Serotonin release assay; ELISA for PF4 antibody

187
Q

What OD level on the PF4 ELISA strongly predicts for a positive SRA in HIT?

A

> 2

188
Q

When should you start warfarin for HIT? What if do it too early (2)?

A

When platelet >150k otherwise can get warfarin skin necrosis or venous limb gangrene

189
Q

If a person with hemophilia C bleeds at all it is probably in what setting?

A

After surgery

190
Q

What two products may be used for factor V deficiency?

A

FFP and platelets (factor V in alpha granules)

191
Q

What platelet disorder may have low factor V?

A

Quebec Platelet Disorder

192
Q

Effect of lithium on CBC?

A

Leukocytosis- neutrophilia

193
Q

Treatment of choice for a child with leukocyte adhesion deficiency

A

Stem cell transplant

194
Q

Preferred term for ethnic neutropenia

A

Duffy-null associated Neutrophil Count (DANC) due to SNPs in DARC

195
Q

What gene is MC mutated in severe congenital neutropenia?

A

ELANE (AD)

196
Q

Chediak Higashi is due to mutations in _____

A

LYST

197
Q

If you were to obtain a BMBx on pt with cyclic neutropenia during periods of neutropenia what would you see?

A

Myelocyte arrest

198
Q

Primary autoimmune neutropenia is primarily a disease of children, what is the typical clinical course?

A

Spontaneous remission within 2 years;
Secondary is like with RA in adults

199
Q

When “HLH” occurs in patients with autoimmune disease, it is referred to as _____

A

MAS- Macrophage Activation Syndrome

200
Q

This is the leading trigger of infection associated HLH

A

EBV

201
Q

MOA of emapalumab

A

Inhibits IFN-Y for second line tx of HLH

202
Q

What maternal blood type has greatest risk of causing hemolytic disease of the newborn?

A

O+

203
Q

This type of VWD has selective deficiency of high molecular weight multimers

A

Type 2A or 2B but 2B has low plt and inc RIPA

204
Q

This type of von Willebrand disease has increased platelet affinity for platelet Gp1b

A

Type 2B—now recommended to check DNA analysis over RIPA

205
Q

This type of von willebrand disease has a very low FVIII level

A

Type 2N

206
Q

Which types of von willebrand disease are only inherited autosomal recessive?

A

Type 2N (FVIII binding site) and Type 3 (absolute deficiency)

207
Q

What is the prevalence of type 1 von willebrand disease?

A

1% (1 in 100)

208
Q

Which blood group had low VWF?

A

Type O

209
Q

Where can you find Von Willebrand guidelines?

A

ASH ISTH NHF WFH 2021 guidelines in Blood Advances

210
Q

Which types of VWD have preserved ratios of VWF ag, VWF activity, and FVIII?

A

Type 1 and Type 1C (but higher propeptide); Type 2N has preserved VWF Ag VWF act but super low FVIII

211
Q

What type of VWD has decreased platelet dependent VWF activity with a preserved multimer pattern?

A

Type 2M

212
Q

Which type of VWD is due to a functional defect in platelet GP1b often leading to thrombocytopenia?

A

Platelet Type VWD

213
Q

VWF activity:antigen ratio consistent with Type I VWD?

A

> 0.7

214
Q

Which VWF Activity:antigen ratio is consistent with a type 2 VWD?

A

<0.7 with the exception of 2N where the issue is the FVIII binding site

215
Q

What is now recommended per the 2021 VWD recommendations to dx Type 1C over the propeptide?

A

DDAVP trial to document clearance

216
Q

What degree of international units is the target VWF activity level for neuraxial anesthesia?

A

0.50-1.50 iu/mL (better than >1.5–no need to correct this much)

217
Q

This multimer pattern is associated with what type of von willebrand disease?

A

Type IIA Von Willebrand Disease—loss of high molecular weight multimer

(also could be IIB but will have thrombocytopenia)

218
Q

What is now suggested over RIPA for type 2B Von Willebrand Disease?

A

Targeted genetic testing (both Type 2B and Platelet Type VWD have abnormal RIPA)

219
Q

What is the panel recommendation from the 2021 paper for mgmt of VWD pts with hx of severe and frequent bleeds?

A

Longterm ppx with VWF concentrates (weekly)

220
Q

In patients with VWD type 1 in need of surgery, what are the goal VWF and FVIII levels?

A

Both over 50% (0.5 iu/ml)

221
Q

What are the two basic cutoff levels of VWF to call type I VWD?

A

<30% or <50% with bleeding

222
Q

DDAVP should not be used for what types of VWD?

A

Contraindicated for 2B, generally avoid for types 2 and 3

223
Q

Iptacopan inhibits what molecule?

A

Complement factor B

224
Q

What is Pyrukynd?

A

Mitapivat (Pyruvate Kinase activator) for pyruvate kinase deficiency

225
Q

What drug was presented in a LBA at ASH 2022 that is a complement factor B inhibitor that may serve as an oral option for PNH patients with ongoing anemia despite terminal compliment blockade?

A

Iptacopan

226
Q

Normal amount of hemoglobin A2 in adults?

A

2-3.5%

227
Q

Which hgb is alpha2gamma2?

A

HbF

228
Q

Which globin of hgb is located on chromosome 16? 11?

A

16–alpha; 11– beta

229
Q

What is the essential difference between thalassemias and hemoglobinopathies?

A

Thalassemias are quantitative defects in numbers of globin genes; hgbpathies are qualitative defects

230
Q

Hemoglobin Constant Spring is an example of what type of thalassemia?

A

Nondeletional Alpha Thalassemia

231
Q

How many alpha globin alleles are there?

A

4

232
Q

Difference between alpha thal silent carrier and alpha thal trait?

A

Silent carrier = 1 allele deleted; Trait = 2 genes deleted (trans—African; cis—SE Asia)

233
Q

After how many alpha globin allele deletions do sx become severe?

A

3 = get HbH—B4 (Cooleys Anemia)

(1 gene del is silent carrier; 2 is alpha thal trait)

234
Q

Which thalassemia may be acquired in MDS?

A

Alpha thalassemia

235
Q

Which thalassemia has HbA2 >3.5% and why?

A

Beta thalassemia because HbA2 is alpha 2 delta 2 so excess alpha chains are the problem

236
Q

How many mg of iron are in each unit prbc?

A

275 mg

237
Q

MOA of luspatercept?

A

Ligand trap for TGF-B superfamily ligands (GDF11) to decrease SMAD 2/3 signaling

238
Q

Which assay is considered to confer the highest risk in APS?

A

Lupus anticoagulant; either DRVVT or LA-PTT

239
Q

Initial tx of purpura fulminans and why?

A

FFP as it contains protein C

240
Q

List the 5 strong thrombophilias

A

Antiphospholipid syndrome, Antithombin deficiency, Protein S deficiency, Protein C deficiency, HOMOZYGOUS Factor V

241
Q

Mgmt of high risk thrombophilia in pregnancy

A

If no FMHx of clot then post-partum LMWH; if FMHx then antepartum and postpartum

242
Q

Mgmt of pregnancy associated DVT?

A

3 month minimum LMWH but MUST contain the 6 week post partum period

243
Q

Leukocyte Adhesion Deficiency has lack of what marker?

A

CD18 (an integrin)

244
Q

Consideration for portal venous thrombosis with bloody diarrhea

A

Intestinal Infarction

245
Q

Reasonable choice for FXIII def if no FXIII concentrate around?

A

Cryoprecipitate

246
Q

MC transfusion related infection

A

Hepatitis B

247
Q

Alloimmune Neonatal Neutropenia assoc with what antigen?

A

HNA-1a

248
Q

MC infection in Chediak Higashi? Gene?

A

S. aureus; LYST

249
Q

Name one platelet disorder and one coagulation disorder that both have the hallmark of premature lysis of thrombi

A

Quebec Platelet Disorder; FXIII deficiency

250
Q

What is one of the classic examples of nondeletional alpha thalassemia?

A

Hemoglobin Constant Spring

251
Q

Expected HbS and HbA levels in sickle cell trait?

A

HbA 60% HbS 40%

252
Q

Sickle cell anemia results from mutations with which globin gene?

A

Beta globin

253
Q

What is the expected ratio of HbS and HbA in a person with sickle-thal?

A

> 60% HbS, 10-30% HbA (almost the opposite of sickle trait)

254
Q

TCD velocities >_____ predict for stroke in SCD kids. Mgmt?

A

200 cm/s; chronic transfusion to HbS <30% x1 yr then hydrea; if already had stroke then keep transfusion going

255
Q

Which sickling disorders are most likely to have splenic sequestration in ADULTS and why?

A

Sickle-thal and HbSC as the spleen not autoinfarcted like HbSS

256
Q

What is the presentation of papillary necrosis in pt with sickle cell?

A

Hematuria with flank pain or painless hematuria; either of which can be complicated by obstruction

257
Q

How many times in a person’s life are they likely to get aplastic crisis from parvovirus in chronic hemolytic disorders?

A

Once; lifelong humoral immunity

258
Q

Definition by RHC for pulmonary hypertension?

A

MPAP > 25 mmHg at rest

259
Q

Maximum tolerated dose of hydrea in SCD is ANC > _____

A

Should be 1.5 or more

260
Q

What drug is a hemoglobin S polymerization inhibitor?

A

Voxelotor —increases hgb 0.5-1.5 g/dL

261
Q

What drug inhibits P selectin as it’s MOA in SCD?

A

Crizanlizumab

262
Q

FDA indication for crizanlizumab

A

Reduce sickle cell crises in SCD patients > 16 yo

263
Q

This inhibitor of the fibrinolysis pathway is activated by thrombin and serves to stabilize the clot

A

TAFI —Thrombin activatable fibrinolysis inhibitor

264
Q

Hereditary Hemochromatosis type IIa is due to mutations in what gene?

A

Hemojuvelin (younger age; less arthropathy than HFE)

265
Q

Name 2 major hepatic concerns with hemochromatosis

A

Cirrhosis and Hepatocellular Carcinoma

266
Q

What type of general hemoglobin disorders may lead to polycythemia with elevated EPO?

A

High affinity hemoglobins

267
Q

In the absence of comorbidities, iron deficiency should only be considered for ferritin < _____

A

30 ng/mL

268
Q

What iron chelators are oral?

A

Defirasirox and deferiprone

269
Q

Which iron chelator is IV?

A

Deferoxamine

270
Q

Main AE of defirasirox

A

Renal dysfunction

271
Q

Main AE of deferiprone

A

Neutropenia (idiosyncratic)

272
Q

Main AEs of deferoxamine

A

Renal and auditory toxicity (route IV/SC)

273
Q

What monitoring is needed for deferiprone?

A

Weekly CBC due to idiosyncratic neutropenia

274
Q

Best mgmt of pt refractory to single agent iron chelation

A

Dual therapy ie deferoxamine (IV/SQ) + deferiprone

275
Q

What drug was evaluated in the BELIEVE trial for beta thalassemia?

A

Luspatercept-aamt

276
Q

What is the genotype for HbH disease?

A

(a-/–) ie alpha thalassemia

HbH itself is B4 tetramer

277
Q

Which alpha thalassemia genotypes require transfusion?

A

HbH disease (a-/- -) and Hb Barts (- -/ - -) but that mostly leads to death

278
Q

Most likely cause of thrombocytopenia in a person with HbC disease?

A

Splenomegaly with sequestration

279
Q

What 3 drugs in sickle cell disease have been shown to reduce the incidence of painful crises?

A

Hydroxyurea (1st line), L-glutamine, and Crizanlizumab

280
Q

Duration of tx for iron deficiency

A

Oral iron until normalization of Hb, MCV, and MCH then 3-6 months to replete stores

281
Q

Relative hepcidin concentration in MDS?

A

Decreased due to impairment of hematopoiesis

282
Q

What is a congenital type of iron deficiency with failure to respond to iron? Mutation?

A

IRIDA (Iron Refractory Iron Deficiency Anemia); TMPRSS6

283
Q

What infectious cause should be investigated as a possible cause of no response to oral iron?

A

H. pylori

284
Q

When would you expect a reticulocytosis after beginning iron supplementation?

A

5-10 days; hgb usually recovers in 2 months

285
Q

Which IV iron formulation is associated with the highest incidence of hypophosphatemia?

A

Ferric Carboxymaltose (Injectafer)

286
Q

Main AE of ferric carboxymaltose (Injectafer)

A

Hypophosphatemia

287
Q

Anemia of inflammation leads to sequestration of iron primarily in which cells?

A

Macrophages

288
Q

XLSA (X linked Sideroblastic Anemia) leads to what sized cells? Gene mutation?

A

Microcytic anemia; ALAS2 gene

289
Q

Hyporeflexia is likely to be caused by what vitamin deficiency with megaloblastic anemia?

A

B12

290
Q

PPI will lead to which vitamin deficiency with megaloblastic anemia?

A

B12

291
Q

What is the relative M:E ratio in PRCA?

A

Increased bc low erythroid precursors

292
Q

What congenital condition should be considered for the DDx of Transient Erythroblastopenia of Childhood (TEC)

A

Diamond Blackfan Anemia—short stature, thumb issues (RPS19)

293
Q

What red cell antigen is there positivity for in Diamond Blackfan Anemia?

A

i

294
Q

What BM failure condition can be diagnosed with high erythrocyte adenosine deaminase (eADA)?

A

Diamond Blackfan Anemia (RPS19 and related mutations)

295
Q

What T cell lymphoma may have autoimmune hemolytic anemia with positive DAT

A

Angioimmunoblastic T Cell Lymphoma

296
Q

Diagnostic tests for hereditary spherocytosis?

A

Osmotic fragility; decreased EMA binding on flow cytometry

297
Q

Lack of central pallor is code for _____

A

Spherocytes

298
Q

Macrocytosis and reticulocytosis >50% after splenectomy are typical findings for which hereditary hemolytic anemia?

A

Pyruvate Kinase Deficiency (Mitapivat)

299
Q

What drug is a C1s inhibitor used to decrease transfusions in cold agglutinin disease?

A

Sutimlimab

300
Q

What drugs are used for classical PNH?

A

Eculizumab and Ravulizumab

301
Q

Deficiency in acute intermittent porphyria?

A

Porphobilinogen Deaminase

302
Q

Dx of Acute Intermittent Porphyria?

A

Elevated urinary porphobilinogen

303
Q

Diagnosis of what general type of porphyria is made by elevated plasma metal-free protoporphyrins?

A

Protoporphyrias (EPP —erythropoietic protoporphyria or XLP—X linked protoporphyria)

304
Q

What are the two protoporphyrias?

A

Erythropoietic Protoporphyria (EPP) and X linked protoporphyria (XLP)

305
Q

Diagnosis of a protoporphyria is made by elevation of _______

A

Elevated plasma metal-free protoporphyrins (>85% in EPP, 50-85% in XLP)

306
Q

What medications may be associated with porphyria cutanea tarda?

A

Estrogen

307
Q

Duffy Null Associated Neutophil Count (DANC) is the preferred nomenclature for _____

A

Benign Ethnic Neutropenia
aka
Constitutional Neutropenia

308
Q

This drug is used for erythropoietic protoporphyria (EPP) and X linked protoprphyria (XLP)

A

Afamelanotide (analogue of alpha-melanocyte stimulating hormone)

309
Q

Afamelanotide is used for which types of porphyria?

A

EPP and XLP (protoporphyrias)

310
Q

Tx of porphyria cutanea tarda?

A

Phlebotomy + Hydroxychloroquine

311
Q

Which porphyria can be treated with phlebotomy?

A

Porphyria Cutanea Tarda (phlebotomy + hydroxychloroquine)

312
Q

Which porphyria can be treated with hydroxychloroquine?

A

Porphyria Cutanea Tarda (Tx hydroxychloroquine + phlebotomy)

313
Q

Which types of porphyria can be treated with givosiran?

A

Acute Hepatic Porphyrias

Acute Intermittent Porphyria, ALA dehyratase def porphyria, variegate porphyria, and hereditary coproporphria

314
Q

What RNAi drug can be used for porphyria

A

Givosiran (for acute hepatic porphyrias)

315
Q

Sickling disorders with splenic sequestration is defined by spleen enlargement and drop > ____ g/dl from baseline

A

2 g/dl

316
Q

DHTR is diagnosed within ____ days of a transfusion. Hyperhemolysis dx how?

A

Within 21 days; hyperhemolysis has drop “severely” below baseline hb

317
Q

Mgmt of sickle cell nephropathy

A

ACEi/ARB

318
Q

Mgmt of multisystem organ failure from sickle cell?

A

Exchange Transfusion

319
Q

Platelets should be > _____ on hydrea for SCD

A

80k

320
Q

Assessment of efficacy of hydrea in SCD requires how many months of therapy?

A

6 months with dose adjustments

321
Q

What should be obtained for worsening anemia on hydrea in SCD?

A

Reticulocyte count (should be >80k)

322
Q

MTD of hydrea should have what ANC, retic, and plt?

A

ANC> 2k, retic > 80k, and plt > 80k

323
Q

Persons with hx of vaso-occlusive stroke in SCD should receive what therapy?

A

Chronic blood transfusions to target HbS <30%

324
Q

What is the appropriate mgmt of sickle cell pt post partum?

A

LMWH x6 weeks and if NOT breastfeeding then restart hydroxyurea

325
Q

These two drugs are good to decrease pain crises in pts on MTD of hydrea in SCD

A

L-glutamine and Crizanlizumab

ie between 15-35 mg/kg and ANC>2 and plt >80 retic > 80

326
Q

Within what time frame does voxelotor increase hgb and decrease hemolysis in SCD?

A

2 weeks

327
Q

Mutations in _____ are seen in 40% of LGL

A

STAT5B and STAT3

328
Q

Why might a pt with celiac have neutropenia

A

Copper deficiency

329
Q

What may be seen on BM Bx for copper deficiency

A

Cytoplasmic vacuoles in myeloid and erythroid precursors

330
Q

3 MC mutations in CHIP

A

ASXL1, TET2, and DNMT3A

331
Q

Flow cytometry using FLAER is for dx of ____. What does FLAER stand for?

A

PNH; Fluorescein-Labeled Proaerolysin

332
Q

CD55 and CD59 protect RBCs from what?

A

Complement mediated destruction

333
Q

Name some inherited causes of AA (5)

A

Fanconi Anemia, Dyskeratosis Congenita, Schwachman-Diamond, short telomere syndrome, and Amegakaryocytic thrombocytopenia

334
Q

Most likely dx for 10 yo boy with short stature, cafe au lait spots and absent radii who develops pancytopenia?

A

Fanconi anemia (chromosome fragility test)

335
Q

What heritable BM failure syndrome has pancreatic insufficiency and liver issues

A

Schwachman-Diamond (SBDS)

336
Q

What germline mutation has been described in an X linked version of Diamond Blackfan Anemia?

A

GATA1 usually it is RPS19

337
Q

Similar pathophysiology to Diamond Blackfan Anemia is seen in which type of MDS?

A

MDS with 5q del (RPS14 abnormalities)

338
Q

Tx for Diamond Blackfan?

A

Steroids and if fail then SCT (mutations in RPS19, RPS24, RPS17)

339
Q

Which porphyria results from abnormalities in uroporphyrinogen decarboxylase?

A

Porphyria Cutanea Tarda (UROD)
Tx = phlebotomy and hydroxychloroquine

340
Q

Abnormality in Porphyria Cutanea Tarda

A

Uroporphyrinogen decarboxylase deficiency

341
Q

MOA of Afamelanotide

A

Analogue of alpha-MSH (melanocyte stimulating hormone) used for EPP and XLP (protoporphyrias)

342
Q

What causes hypocalcemia in apheresis?

A

Citrate toxicity

343
Q

Is hemolysis intravascular or extravascular in acute hemolytic transfusion rxn? DHTR?

A

Intravascular; extravascular

344
Q

Is there hemoglobinuria in a DHTR?

A

Shouldn’t be as it is mostly extravascular hemolysis as opposed to an acute hemolytic transfusion reaction

345
Q

Expected increment after 1 unit of platelets is _____

A

30k

346
Q

Why might a person be hyperkalemic after transfusion? Highest risk in which PRBC preparation?

A

Due to leakage from RBC; highest in irradiated due to RBC damage

347
Q

RBC are stored at what temp?

A

4 C; 39F

348
Q

MOA of TRALI

A

Antibodies in donor against HLA or HNA (human neutrophil antigen) in neutrophil in lungs leads to activation of the marginated pool

349
Q

What is the only HBOC available in the US?

A

Hemopure available as compassionate use (hemoglobin based oxygen carrier)

350
Q

Severe thrombocytopenia 1-2 weeks after receiving transfusion? Antibody to what? Tx?

A

Post transfusion purpura; HPA 1a; high dose IVIG

351
Q

Preferred AC if needed in esophageal and gastric cancer

A

LMWH

352
Q

Effects of OCPs on VWF and protein S?

A

Increase VWF and decrease protein S

353
Q

Why is pregnancy high risk for protein S deficiency?

A

Pregnancy and OCPs decrease protein S already

354
Q

Type of pRBC and FFP for alloSCT pts who are bidirectional mismatches

A

O red cell, AB plasma

355
Q

What severe congenital neutropenia genes are AD? AR? X linked?

A

AD = ELANE
AR = HAX1
X-linked = WAS (Wiskott Aldrich)

356
Q

Alloimmune neonatal neutropenia is due to antibodies to which antigen?

A

HNA-1a

357
Q

What is deficient in chronic granulomatous disease?

A

NADPH oxidase

358
Q

LYST mutations are present in what disease?

A

Chediak Higashi

359
Q

What disease can be dx by chromosome fragility to DEB or mitomycin C

A

Fanconi Anemia

360
Q

There’s an increased risk of skin cancer In which BMF syndromes?

A

Fanconi anemia and Dyskeratosis Congenita

361
Q

What BMF syndrome is treated with androgens (danazol)?

A

Dyskeratosis Congenita (TERC, TERT, DKC)

362
Q

Which BMF syndrome is diagnosed with a Flow-FISH?

A

Dyskeratosis Congenita (TERC, TERT, DKC) ie short telomere syndromes

363
Q

Job syndrome/Hyper-IgE syndrome has mutations in ____

A

STAT3 (also seen in LGL)

364
Q

What is WHIM syndrome? Mutation?

A

Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (can’t release neuts from BM); CXCR4

365
Q

Term for inability to release neutrophils from BM

A

Myelokathexis

366
Q

Schwachman Diamond syndrome have increased risk of cardiotoxicity to which conditioning agent?

A

Cyclophosphamide

367
Q

FDP-AML is due to mutations in ____

A

RUNX1

368
Q

What drug inhibits IFN-Y as a second line agent in HLH

A

Emapalumab

369
Q

GBA gene is mutated in what disease? Enzyme?

A

Gauchers; glucocerebrosidase

370
Q

What PNH drug is a C3 inhibitor?

A

Pegcetacoplan

371
Q

MOA of pegcetacoplan

A

C3 inhibitor in PNH

372
Q

This cause of BMF is due to biallelic MPL mutations

A

Congenital Amegakaryocytic Thrombocytopenia (CAMT)

373
Q

Gray platelet syndrome is due to mutations in _____

A

NBEAL2

374
Q

What is the only true way to differentiate type 2B VWD and platelet type VWD?

A

Genetic testing

375
Q

What two types of VWD would have increased RIPA? How to differentiate?

A

Type 2B and platelet type —diff by genetic testing now preferred over RIPA anyway

376
Q

Wilson disease may cause hemolysis due to deficiency of ____

A

Hexokinase

377
Q

What is the target factor X level when repleting?

A

20%

378
Q

Inheritance pattern of hemophilia A? Type 2N VWD?

A

X linked recessive; AR

379
Q

Mgmt of high risk SVT? Dx?

A

45 days AC (~6-7 weeks); <5 cm from large vein

380
Q

Why is there hyperfibrinolysis in Quebec platelet disorder?

A

Increased urokinase in platelets (and FV def)

381
Q

What test would differentiate a storage pool vs secretion defect in platelets?

A

Electron Microscopy

382
Q

What are the macrothrombocytopenias?

A

MYH9 related, gray platelet (NBEAL2) Bernard Soulier (GP1b/IX) and Montreal Platelet Syndrome

383
Q

MYH9, Sebastian, Fechtner, and Epstein syndromes make up this eponymous abnormality

A

May-Hegellan

384
Q

Tx of congenital TTP (Upshaw Schulman syndrome)

A

FFP to replace ADAMTS13

385
Q

What is abnormal in EPP?

A

Ferrochelatase

386
Q

Abnormalities in ferrochelatase are seen in which porphyria?

A

EPP

387
Q

MOA of givosiran

A

siRNA that breaks down ALAS1 mRNA and reduces ALAS1 mRNA in hepatic porphyrias

388
Q

This term refers to failure of neutrophils to leave the BM

A

Myelokathexis (MC in WHIM syndrome with CXCR4 mutations)

389
Q

In what proportion of renal transplantation may post transplant polycythemia develop?

A

10-15% mc in men; tx = ACE/ARB

390
Q

Classic lab finding after splenectomy for pyruvate kinase deficiency

A

Reticulocytosis > 50%

391
Q

Porphobilinogen deaminase is deficient in which porphyria?

A

Acute intermittent porphyria; givosiran can be used to prevent attacks; on the trial it was almost all AIP (93-96% on each arm)

Benign Heme Review (2 decks)

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